視黃醇脫氫酶12(RDH12)是一種表現在感光細胞的視覺色素循環再利用酵素。目前已知 RDH12 的變異會導致嚴重的兒童期視力障礙或瀰漫性視網膜病變。生科系基科所鍾明怡老師與台北榮總眼科部陳世真部長研究團隊透過本研究發現了一種新的視網膜病變型態,是由於兩個RDH12等位基因體染色體隱性變異,所引起的黃斑部病變,表現出假性的先天裂損。雖然RDH12主要在感光細胞中表達,但在這些患者中可以測量到相對正常或稍為低於正常的感光視覺功能。在眼底鏡下,這些病變看起來通常與眼部的先天裂損相似,也會出現出不同程度的脈絡膜視網膜萎縮和色素沉著。基因檢測有助於早期診斷和遺傳諮詢的進行。
RDH12 is an enzyme for recycling visual pigment in the photoreceptor cells. Mutations in RDH12 are known for causing severe childhood-onset visual impairment or diffuse retinal degeneration. This article described a new phenotype, an autosomal recessive pseudocoloboma-like maculopathy, resulting from RDH12 mutations. Although RDH12 is primarily expressed in the photoreceptor cells, relatively normal to subnormal photoreceptor functions are observed in these patients. Funduscopically, the lesions often appear similar to a coloboma and have different degrees of chorioretinal atrophy and pigmentation in the macula. Genetic testing may facilitate early diagnosis and genetic counseling.
◎期刊資訊
Che-Yuan Kuo (郭哲源) , Ming-Yi Chung (鍾明怡)*, Shih-Jen Chen (陳世真) * . Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations. J Med Genet. 2023 Jan 23;jmg-2022-108918. doi: 10.1136/jmg-2022-108918.(生命科學系暨基因體科學研究所) .(*Contributed equally.)
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